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Add ZFPM2 to reduced penetrance list

Status: Open.

#125 In Clinical-Genomics/reference-files;

· jemten opened on Feb 1, 2026

How useful is ModelScore?

Status: Open.

#121 In Clinical-Genomics/reference-files;

· fellen31 opened on Dec 30, 2025

Mismatches between order in variant_consequences files and the scores we set in our rank models

Status: Open.

#119 In Clinical-Genomics/reference-files;

· fellen31 opened on Dec 12, 2025

Evaluate use of STRchive STRanger json

Status: Open.

#116 In Clinical-Genomics/reference-files;

· dnil opened on Nov 28, 2025

Nallo: Add Sawfish CNV exclusion regions

Status: Open.

#114 In Clinical-Genomics/reference-files;

· fellen31 opened on Sep 25, 2025

GMS reference-files?

Status: Open.

#113 In Clinical-Genomics/reference-files;

· fellen31 opened on Sep 15, 2025

FLUFFY?

Status: Open.

#99 In Clinical-Genomics/reference-files;

· J35P312 opened on May 22, 2025

Update feature_truncation in Nallo rank model?

Status: Open.

#93 In Clinical-Genomics/reference-files;

· fellen31 opened on Apr 2, 2025

MIP SV rank model blank "variant type" category

Status: Open.

#82 In Clinical-Genomics/reference-files;

· dnil opened on Oct 31, 2024